Progeria

The disease I chose to research is Progeria which is also known as Hutchinson-Gilford Syndrome. The disorder is caused by a defect in the gene called lamin A or LMNA which is responsible for holding the cell’s nucleus together. A defect in lamin A makes cells unstable which appears to lead to the rapid age process exhibited in Progeria.The mutation is a point mutation of the first chromosome. Parents are not carriers of Progeria and the genes are new for the child. The name Hutchinson-Gilford Progeria Syndrome comes from the scientist who first described the disease in the late 1800s in England. There are many signs and symptoms of Progeria. Physically the child will show a slowed growth around one year old, have a large head to face body proportion, narrowed face,small lower jaw, and a beaked nose. Internal symptoms of Progeria include insulin resistance,hearing loss,fragile bone,and cardiovascular disease. You may also notice a high pitched voice and hair loss. There is no cure to Progeria but there is a drug called The FTI Drug which was developed to treat cancer was tested to help the aging process in children with Progeria. The FTI Drug has been used in studies and is thought to improve a child’s weight gain,bone density,vascular stiffness, and hearing which are all common problems with Progeria. Children with Progeria usually take low dose aspirin every day to help prevent heart attacks and stroke. They also may take a growth hormone to help them build height and weight. Children with Progeria usually go through physical and occupational therapy to help their stiff muscles and joints which are caused by poor circulation. Lastly they may have surgery to slow the progression of heart disease. Heart Disease is the number one cause of death for children with Progeria. The average life span for someone with Progeria is fourteen years. A research fund called Progeria Research Foundation or PRF is currently in the works of discovering a cure and treaments for Progeria. It was funded by a mother who’s son was diagnosed in 1998. The PRF was the driving force behind the discovery of the LMNA gene. Progeria is a very rare disorder with only 1 in every 4-8 million children however the PRF manages different chapters of support groups throughout the U.S. and is in the process of trying to discover more.